|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0002315)
|
Headache |
Very frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
3
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
5
|
(HPO:0000098)
|
Tall stature |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
7
|
(HPO:0002536)
|
Abnormal cortical gyration |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
8
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
9
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
10
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
11
|
(HPO:0000034)
|
Hydrocele testis |
|
|
|
|
18 / 7739
|
|
12
|
(HPO:0100673)
|
Vaginal hydrocele |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0000138)
|
Ovarian cyst |
|
|
|
|
25 / 7739
|
|
14
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
15
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
16
|
(HPO:0000221)
|
Furrowed tongue |
|
|
|
|
24 / 7739
|
|
17
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
18
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
19
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
20
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
21
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
22
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
23
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
24
|
(HPO:0000836)
|
Hyperthyroidism |
|
|
|
|
25 / 7739
|
|
25
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
|
26
|
(HPO:0000854)
|
Thyroid adenoma |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
28
|
(HPO:0001031)
|
Subcutaneous lipoma |
|
|
|
|
112 / 7739
|
|
29
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
|
30
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
31
|
(HPO:0002253)
|
Colonic diverticula |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
33
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
34
|
(HPO:0002858)
|
Meningioma |
|
|
|
|
22 / 7739
|
|
35
|
(HPO:0003002)
|
Breast carcinoma |
|
|
|
|
23 / 7739
|
|
36
|
(HPO:0004390)
|
Hamartomatous polyposis |
|
|
|
|
9 / 7739
|
|
37
|
(HPO:0004481)
|
Progressive macrocephaly |
|
|
|
|
8 / 7739
|
|
38
|
(HPO:0006740)
|
Transitional cell carcinoma of the bladder |
|
|
|
|
7 / 7739
|
|
39
|
(HPO:0100646)
|
Thyroiditis |
|
|
|
|
11 / 7739
|
|
40
|
(OMIM)
|
Obesity, increased risk of |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
'Birdlike' facies (uncommon) |
|
|
|
|
2 / 7739
|
|
42
|
(MedDRA:10068322)
|
Oral papilloma |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0100026)
|
Arteriovenous malformation |
|
|
|
|
38 / 7739
|
|
44
|
(OMIM)
|
Intracranial developmental venous anomalies |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Virginal hyperplasia |
|
|
|
|
2 / 7739
|
|
46
|
(MedDRA:10016621)
|
Fibrocystic breast disease |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Gynecomastia in males |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Breast fibroadenomas |
|
|
|
|
2 / 7739
|
|
49
|
(HPO:0100677)
|
Vulval varicose vein |
|
|
|
|
3 / 7739
|
|
50
|
(MedDRA:10046900)
|
Vaginal cyst |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Vulvar cysts |
|
|
|
|
2 / 7739
|
|
52
|
(MedDRA:10024184)
|
Leiomyoma |
|
|
|
|
2 / 7739
|
|
53
|
(OMIM)
|
Multiple facial papules |
|
|
|
|
2 / 7739
|
|
54
|
(OMIM)
|
Acral keratoses |
|
|
|
|
2 / 7739
|
|
55
|
(OMIM)
|
Multiple skin tags |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Facial trichilemmomas |
|
|
|
|
2 / 7739
|
|
57
|
(OMIM)
|
Lhermitte-Duclos disease |
|
|
|
|
2 / 7739
|
|
58
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
59
|
(OMIM)
|
Psychomotor delay, mild to moderate |
|
|
|
|
2 / 7739
|
|
60
|
(OMIM)
|
Cerebellar gangliocytoma manifesting as seizure and tremor |
|
|
|
|
2 / 7739
|
|
61
|
(OMIM)
|
Enhanced insulin sensitivity |
|
|
|
|
2 / 7739
|
|
62
|
(HPO:0100615)
|
Ovarian neoplasm |
|
|
|
|
25 / 7739
|
|
63
|
(OMIM)
|
Cervical carcinoma |
|
|
|
|
2 / 7739
|
|
64
|
(OMIM)
|
Uterine adenocarcinoma |
|
|
|
|
2 / 7739
|
|
65
|
(MedDRA:10066474)
|
Thyroid cancer |
|
|
|
|
6 / 7739
|
|
66
|
(OMIM)
|
Mucosal neuromas |
|
|
|
|
2 / 7739
|
|
67
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
68
|
(HPO:0001829)
|
Foot polydactyly |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
69
|
(HPO:0002516)
|
Increased intracranial pressure |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|